Canonical Allele Identifier: CA16040686
Gene: LAMC2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370421
ClinVar RCV Id: RCV000409003
dbSNP Id: rs1057516473

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.183243175del , CM000663.2:g.183243175del GRCh38
NC_000001.10:g.183212310del , CM000663.1:g.183212310del GRCh37
NC_000001.9:g.181478933del NCBI36
NG_007079.2:g.61912del

Transcript Alleles

HGVS Amino-acid change
NM_005562.2:c.3357del VV NP_005553.2:p.Leu1120TrpfsTer22
ENST00000264144.4:c.3357del ENSP00000264144.4:p.Leu1120TrpfsTer22